Brachydactyly syndrome type B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2000 |
2000 |
Total Respiratory System Resistance
|
phenotype |
|
Diagnostic Procedure
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.300 |
None |
1.000 |
4 |
1
|
2000 |
2011 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.300 |
None |
1.000 |
4 |
1
|
2000 |
2011 |
BRACHYDACTYLY, TYPE B2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
2
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Thoracic hemivertebra
|
disease |
|
Congenital Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
2nd-5th toe middle phalangeal hypoplasia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
11
|
0.300 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Hypoplastic sacrum
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic female external genitalia
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Robinow syndrome, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
8
|
1.000 |
strong |
1.000 |
16 |
8
|
2000 |
2020 |
Congenital absence of uvula
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Duplication of the distal phalanx of hand
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the distal phalanges of the toes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid distal phalanx of toe
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Robinow Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
strong |
|
0 |
|
|
|
BRACHYDACTYLY, TYPE B1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
6
|
8
|
0.700 |
strong |
0.941 |
17 |
6
|
2000 |
2019 |
Aplasia/Hypoplasia of the distal phalanges of the hand
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the metacarpal bones
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed eruption of permanent teeth
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Exaggerated cupid's bow
|
phenotype |
|
Finding
|
11
|
6
|
0.100 |
None |
|
0 |
|
|
|
Broad toe
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fingernail dysplasia
|
disease |
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal tricuspid valve morphology
|
disease |
|
Anatomical Abnormality
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Jarcho-Levin syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
12
|
14
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |